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GTR Home > Conditions/Phenotypes > Combined oxidative phosphorylation deficiency 59

Summary

Combined oxidative phosphorylation deficiency-59 (COXPD59) may present as a lethal infantile form of Leigh syndrome (see 256000) or as a milder disorder with hypertrophic cardiomyopathy, lactic acidosis, attention deficit-hyperactivity disorder (ADHD) and survival into adulthood (summary by Amarasekera et al., 2023). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: C21orf92, COXPD59, L39mt, L5mt, MRP-L5, MRPL5, MSTP003, PRED22, PRED66, RPML5, mL39, MRPL39
    Summary: mitochondrial ribosomal protein L39

Clinical features

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